ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) (rs398123566)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000079472 SCV000191026 likely benign not provided 2013-09-23 criteria provided, single submitter clinical testing The c.23_24insCGC (aka c.21_23dupCGC) variant results in the duplication of a single Alanine residue in a poorly conserved region of the MECP2_e1 transcript. Although c.21_23dupCGC has not been published to our knowledge, it is reported in a gene specific mutation database as a variant of unknown pathogenicity. Additionally, a duplication of two Alanine residues in this region of the protein has been reported as a benign polymorphism because it was identified in a female with Rett syndrome and her unaffected mother in one family and did not co-segregate with intellectual disability in another family (Evans et al., 2005; Quenard et al., 2006). However, other variations in the number of Alanine or Glycine repeats in this region of the protein were found in approximately 1% of females with intellectual disability but a significantly smaller percentage of controls, so the authors suggested these variants may be associated with an increased risk for intellectual disability (Harvey et al., 2007). This variant has been observed to be inherited from an apparently unaffected mother. The variant is found in MECP2 panel(s).
Genetic Services Laboratory,University of Chicago RCV000170281 SCV000247957 uncertain significance not specified 2015-06-01 criteria provided, single submitter clinical testing
Invitae RCV001081153 SCV000766871 benign Severe neonatal-onset encephalopathy with microcephaly 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079472 SCV000111351 uncertain significance not provided 2013-08-20 no assertion criteria provided clinical testing
RettBASE RCV000170281 SCV000222613 uncertain significance not specified 2006-02-03 no assertion criteria provided curation

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